Variant report

Variant	esv1835465
Chromosome Location	chr9:43314125-43400052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:288)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr9:43380741-43381310	GM12878	blood:	n/a	n/a
2	BATF	chr9:43391498-43391789	GM12878	blood:	n/a	n/a
3	BATF	chr9:43393256-43393475	GM12878	blood:	n/a	n/a
4	BATF	chr9:43380711-43381300	GM12878	blood:	n/a	n/a
5	BATF	chr9:43397875-43398296	GM12878	blood:	n/a	n/a
6	BATF	chr9:43393230-43393466	GM12878	blood:	n/a	n/a
7	BATF	chr9:43397934-43398253	GM12878	blood:	n/a	n/a
8	BATF	chr9:43369194-43369353	GM12878	blood:	n/a	n/a
9	BATF	chr9:43374503-43374725	GM12878	blood:	n/a	n/a
10	BATF	chr9:43392171-43392418	GM12878	blood:	n/a	n/a
11	BATF	chr9:43391601-43391805	GM12878	blood:	n/a	n/a
12	BCL11A	chr9:43380710-43381295	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:43374467-43374767	GM12878	blood:	n/a	n/a
14	BCL11A	chr9:43380719-43381302	GM12878	blood:	n/a	n/a
15	BCL11A	chr9:43392237-43392400	GM12878	blood:	n/a	n/a
16	BCL11A	chr9:43397937-43398236	GM12878	blood:	n/a	n/a
17	BCL11A	chr9:43374447-43374685	GM12878	blood:	n/a	n/a
18	BCL11A	chr9:43368498-43368743	GM12878	blood:	n/a	n/a
19	BCL11A	chr9:43393221-43393463	GM12878	blood:	n/a	n/a
20	CTCF	chr9:43392320-43392470	GM06990	blood:	n/a	n/a
21	CTCF	chr9:43374781-43375151	A549	lung:	n/a	n/a
22	CTCF	chr9:43335399-43335642	A549	lung:	n/a	n/a
23	CTCF	chr9:43392360-43392510	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr9:43341327-43341614	K562	blood:	n/a	n/a
25	CTCF	chr9:43392155-43392488	K562	blood:	n/a	n/a
26	CTCF	chr9:43341372-43341420	GM13977	blood:	n/a	n/a
27	CTCF	chr9:43341343-43341666	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr9:43341587-43341669	GM10266	blood:	n/a	n/a
29	CTCF	chr9:43392280-43392430	GM12871	blood:	n/a	n/a
30	CTCF	chr9:43341386-43341606	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr9:43341397-43341592	Gliobla	brain:	n/a	n/a
32	CTCF	chr9:43341402-43341565	A549	lung:	n/a	n/a
33	CTCF	chr9:43321001-43321114	GM12878	blood:	n/a	n/a
34	CTCF	chr9:43392129-43392475	A549	lung:	n/a	n/a
35	CTCF	chr9:43341394-43341583	NHEK	skin:	n/a	n/a
36	CTCF	chr9:43321004-43321125	MCF-7	breast:	n/a	n/a
37	CTCF	chr9:43341292-43341625	A549	lung:	n/a	n/a
38	CTCF	chr9:43325974-43326076	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr9:43341417-43341534	Fibrobl	skin:	n/a	n/a
40	CTCF	chr9:43341453-43341460	GM13977	blood:	n/a	n/a
41	CTCF	chr9:43341391-43341582	GM12878	blood:	n/a	n/a
42	CTCF	chr9:43392327-43392393	A549	lung:	n/a	n/a
43	CTCF	chr9:43393322-43393380	GM10266	blood:	n/a	n/a
44	CTCF	chr9:43392197-43392417	GM12878	blood:	n/a	n/a
45	CTCF	chr9:43374849-43375158	A549	lung:	n/a	n/a
46	CTCF	chr9:43343822-43343879	GM10266	blood:	n/a	n/a
47	CTCF	chr9:43392380-43392530	GM12864	blood:	n/a	n/a
48	CTCF	chr9:43392340-43392490	GM12875	blood:	n/a	n/a
49	CTCF	chr9:43392360-43392510	HEK293	kidney:	n/a	n/a
50	CTCF	chr9:43392384-43392387	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD20A3-11	chr9:43318619-43318952	NONHSAT131357
2	lnc-ANKRD20A3-11	chr9:43319264-43319576	NONHSAT131357
3	lnc-CNTNAP3B-6	chr9:43399987-43401315	NONHSAT131358

No data

Variant related genes	Relation type
ENSG00000223512	TF binding region
ATP5A1P5	TF binding region
ENSG00000224828	TF binding region

Extended variants
information (count: 404 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28552539	chr9:43314125-43314126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs587662135	chr9:43314134-43314135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587742134	chr9:43314160-43314161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs587621107	chr9:43314163-43314164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373415998	chr9:43314184-43314185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs587730168	chr9:43314198-43314199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73648327	chr9:43314201-43314202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28668662	chr9:43314207-43314208	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs587728946	chr9:43314220-43314221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587616891	chr9:43314221-43314222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113790172	chr9:43314251-43314252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386734653	chr9:43314263-43314264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs587683458	chr9:43314283-43314284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs587743023	chr9:43314294-43314295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28464966	chr9:43314341-43314342	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs587618287	chr9:43314348-43314349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373266743	chr9:43314349-43314350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191964235	chr9:43314350-43314351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28657516	chr9:43314352-43314353	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs587683241	chr9:43314368-43314369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs587767028	chr9:43314371-43314372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148585672	chr9:43314373-43314374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs587747903	chr9:43314374-43314375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs587619318	chr9:43314390-43314391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs587677200	chr9:43314406-43314407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs587716854	chr9:43314414-43314415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115069136	chr9:43314431-43314432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371279712	chr9:43314434-43314435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371583730	chr9:43314448-43314449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185585686	chr9:43314456-43314457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587722180	chr9:43314475-43314476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373065244	chr9:43314489-43314490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28561522	chr9:43314508-43314509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs201613679	chr9:43314510-43314511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs587618042	chr9:43314523-43314524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28420826	chr9:43314525-43314526	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs587695204	chr9:43314533-43314534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188924895	chr9:43314547-43314548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs587623066	chr9:43314554-43314555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35360257	chr9:43314556-43314557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs587686405	chr9:43314563-43314564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs587765097	chr9:43314603-43314604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587666381	chr9:43314620-43314621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192409788	chr9:43314622-43314623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184595340	chr9:43314649-43314650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs28454724	chr9:43314656-43314657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373648730	chr9:43314660-43314661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149767052	chr9:43314685-43314686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs587772999	chr9:43314712-43314713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs587657934	chr9:43314717-43314718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	20409316	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Lung adenocarcinoma	17086460	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:43314000-43314200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr9:43314000-43314800	Enhancers	Fetal Brain Male	brain
3	chr9:43314400-43315400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr9:43314800-43315800	Weak transcription	Fetal Brain Male	brain
5	chr9:43315400-43316000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr9:43315400-43316000	Enhancers	NHEK	skin
7	chr9:43316000-43316200	Enhancers	Fetal Brain Male	brain
8	chr9:43376600-43377400	Enhancers	Primary B cells from peripheral blood	blood
9	chr9:43396400-43399000	Enhancers	Primary B cells from peripheral blood	blood
10	chr9:43399000-43400000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr9:43400000-43400200	Enhancers	Primary B cells from peripheral blood	blood

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